ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92834916A>G , CM000663.2:g.92834916A>G | GRCh38 |
| NC_000001.10:g.93300473A>G , CM000663.1:g.93300473A>G | GRCh37 |
| NC_000001.9:g.93073061A>G | NCBI36 |
| NG_011779.1:g.7880A>G | |
| NG_033051.1:g.131607T>C | |
| NG_011779.2:g.7931A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.324+3A>G (RPL5) MANE Select | ENSP00000359345.2:n.324+3A>G | |
| ENST00000645119.1:c.324+3A>G (RPL5) | ENSP00000493811.1:n.324+3A>G | |
| ENST00000645300.1:c.174+3A>G (RPL5) | ENSP00000495589.1:n.174+3A>G | |
| ENST00000645908.1:n.58+3A>G (RPL5) | ||
| ENST00000646852.1:n.356A>G (RPL5) | ||
| ENST00000315741.5:c.174+3A>G (RPL5) | ENSP00000359338.2:n.174+3A>G | |
| ENST00000370321.7:c.324+3A>G (RPL5) | ENSP00000359345.2:n.324+3A>G | |
| ENST00000461952.1:n.1034+3A>G (RPL5) | ||
| ENST00000470843.5:c.*286+3A>G (RPL5) | ENSP00000473675.1:n.*286+3A>G | |
| ENST00000615519.4:c.475-1882T>C (DIPK1A) | ENSP00000483279.1:n.475-1882T>C | |
| NM_000969.3:c.324+3A>G (RPL5) | NP_000960.2:n.324+3A>G | |
| NM_001252273.1:c.475-1882T>C (DIPK1A) | NP_001239202.1:n.475-1882T>C | |
| NM_000969.5:c.324+3A>G (RPL5) MANE Select | NP_000960.2:n.324+3A>G | |
| NR_146333.1:n.420+36A>G (RPL5) | ||
| NM_001252273.2:c.475-1882T>C (DIPK1A) | NP_001239202.1:n.475-1882T>C |